1. The Effect of SF3B1 Mutation on the DNA Damage Response and Nonsense-Mediated mRNA Decay in Cancer
- Author
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Leeksma, A.C. (Alexander C.), Derks, I.A.M. (Ingrid), Kasem, M.H. (M. Haidar), Kiliç, E. (Emine), Klein, A. (Annelies) de, Jager, M.J. (Martine), Loosdrecht, A.A. (Arjan) van de, Jansen, J.H. (Joop H.), Navrkalova, V. (Veronika), Faber, L.M. (L.), Zaborsky, N. (Nadja), Egle, A. (Alexander), Zenz, T. (Thorsten), Pospisilova, S. (Sarka), Abdel-Wahab, O. (Omar), Kater, A.P. (Arnon), Eldering, E. (Eric), Leeksma, A.C. (Alexander C.), Derks, I.A.M. (Ingrid), Kasem, M.H. (M. Haidar), Kiliç, E. (Emine), Klein, A. (Annelies) de, Jager, M.J. (Martine), Loosdrecht, A.A. (Arjan) van de, Jansen, J.H. (Joop H.), Navrkalova, V. (Veronika), Faber, L.M. (L.), Zaborsky, N. (Nadja), Egle, A. (Alexander), Zenz, T. (Thorsten), Pospisilova, S. (Sarka), Abdel-Wahab, O. (Omar), Kater, A.P. (Arnon), and Eldering, E. (Eric)
- Abstract
Recurrent mutations in splicing factor 3B subunit 1 (SF3B1) have been identified in several malignancies and are associated with an increased expression of 3’ cryptic transcripts as a result of alternative branchpoint recognition. A large fraction of cryptic transcripts associated with SF3B1 mutations is expected to be sensitive for RNA degradation via nonsense-mediated mRNA decay (NMD). Several studies indicated alterations in various signaling pathways in SF3B1-mutated cells, including an impaired DNA damage respons
- Published
- 2021
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